Global kidney health 2017 and beyond: a roadmap for closing gaps in care, research, and policy
The global nephrology community recognises the need for a cohesive plan to address the
problem of chronic kidney disease (CKD). In July, 2016, the International Society of …
problem of chronic kidney disease (CKD). In July, 2016, the International Society of …
[HTML][HTML] Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes
Abstract Germline SAMD9 and SAMD9L mutations (SAMD9/9L mut) predispose to
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …
[HTML][HTML] dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …
Prioritization based on appropriate functional annotations has been used as an …
[PDF][PDF] REVEL: an ensemble method for predicting the pathogenicity of rare missense variants
NM Ioannidis, JH Rothstein, V Pejaver… - The American Journal of …, 2016 - cell.com
The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …
variants to complex traits is hampered by low statistical power and limited functional data …
Finding the genomic basis of local adaptation: pitfalls, practical solutions, and future directions
Uncovering the genetic and evolutionary basis of local adaptation is a major focus of
evolutionary biology. The recent development of cost-effective methods for obtaining high …
evolutionary biology. The recent development of cost-effective methods for obtaining high …
A review of keratoconus: diagnosis, pathophysiology, and genetics
VM Tur, C MacGregor, R Jayaswal, D O'Brart… - Survey of …, 2017 - Elsevier
We discuss new approaches to the early detection of keratoconus and recent investigations
regarding the nature of its pathophysiology. We review the current evidence for its complex …
regarding the nature of its pathophysiology. We review the current evidence for its complex …
[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
Autism genetics: opportunities and challenges for clinical translation
JAS Vorstman, JR Parr, D Moreno-De-Luca… - Nature Reviews …, 2017 - nature.com
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …
risk effects are highly variable, and they are frequently related to other conditions besides …
SLC transporters as therapeutic targets: emerging opportunities
Solute carrier (SLC) transporters—a family of more than 300 membrane-bound proteins that
facilitate the transport of a wide array of substrates across biological membranes—have …
facilitate the transport of a wide array of substrates across biological membranes—have …